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PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline.
Barton SJ, Koppelman GH, Vonk JM, Browning CA, Nolte IM, Stewart CE, Bainbridge S, Mutch S, Rose-Zerilli MJ, Postma DS, Maniatis N, Henry AP, Hall IP, Holgate ST, Tighe P, Holloway JW, Sayers I. Barton SJ, et al. Among authors: mutch s. J Allergy Clin Immunol. 2009 Jun;123(6):1391-400.e17. doi: 10.1016/j.jaci.2009.03.014. Epub 2009 May 13. J Allergy Clin Immunol. 2009. PMID: 19443020
Mammalian cell survival and processing in supercritical CO(2).
Ginty PJ, Howard D, Rose FR, Whitaker MJ, Barry JJ, Tighe P, Mutch SR, Serhatkulu G, Oreffo RO, Howdle SM, Shakesheff KM. Ginty PJ, et al. Proc Natl Acad Sci U S A. 2006 May 9;103(19):7426-31. doi: 10.1073/pnas.0508895103. Epub 2006 May 1. Proc Natl Acad Sci U S A. 2006. PMID: 16651535 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Increased genital mucosal cytokines in Canadian women associate with higher antigen-presenting cells, inflammatory metabolites, epithelial barrier disruption, and the depletion of L. crispatus.
Farr Zuend C, Lamont A, Noel-Romas L, Knodel S, Birse K, Kratzer K, McQueen P, Perner M, Ayele H, Mutch S, Berard AR, Schellenberg JJ, Senturk F, McCorrister S, Westmacott G, Mulhall F, Sandberg B, Yu A, Burnett M, Poliquin V, Burgener AD. Farr Zuend C, et al. Among authors: mutch s. Microbiome. 2023 Jul 25;11(1):159. doi: 10.1186/s40168-023-01594-y. Microbiome. 2023. PMID: 37491398 Free PMC article.
Phytest: quality control for phylogenetic analyses.
Wirth W, Mutch S, Turnbull R, Duchene S. Wirth W, et al. Among authors: mutch s. Bioinformatics. 2022 Nov 15;38(22):5124-5125. doi: 10.1093/bioinformatics/btac664. Bioinformatics. 2022. PMID: 36205601 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
35 results